Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/807467

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Title
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
Author/Creator
Cotton, Richard G. H.;  Al Aqeel , Aida I.;  Patrinos, George P.;  Qi, Ming;  Ramesar, Rajkumar S.;  Scott, Rodney J.;  Sijmons, Rolf H.;  Sobrido, Maria-Jesus;  Vihinen, Mauno;  Al-Mulla, Fahd;  Carrera, Paola;  Claustres, Mireille;  Ekong, Rosemary;  Hyland, Valentine J.;  Macrae, Finlay A.;  Marafie, Makia J.;  Paalman, Mark H.
Institution
The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
Description
The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to collections of mutations causing specific diseases has become essential for appropriate genetic health care. Because information has accumulated, it has become apparent that there are many gaps in our ability to correctly annotate all the changes that are being identified at ever increasing rates. The Human Variome Project (www.humanvariomeproject.org) was initiated to facilitate integrated and systematic collection and access to this data. This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities.
Relation
Genetics in Medicine Vol. 11, Issue 12, p. 843-849
Publisher Link
http://dx.doi.org/10.1097/GIM.0b013e3181c371c5
Date
2009
Publisher
Lippincott Williams & Wilkins
Keyword(s)
mutations;  Human Variome Project;  inherited diseases;  databases
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/807467
Identifier
ISSN:1098-3600
Reviewed
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Subject
"Genetics in Medicine"
 
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